Papers
RefSeq ID
Protein change
DNA change
1–12 of 15 variants
NM_020169.4
p.H53R
c.158A>G
NM_020169.4
p.V16M
c.46G>A
NM_020169.4
p.R48K
c.143G>A
NM_020169.4
p.A13T
c.37G>A
NM_020169.4
p.P28Q
c.83C>A
NM_020169.4
p.Q35fs
c.103_104fs
NM_020169.4
p.G96E
c.287G>A
NM_020169.4
p.F126S
c.377T>C
NM_020169.4
p.T134M
c.401C>T
NM_020169.4
p.T165N
c.494C>A
NM_020169.4
p.E177A
c.530A>C
NM_020169.4
p.Q196H
c.588A>T